Cargando…

An adolescent case of familial hyperparathyroidism with a germline frameshift mutation of the CDC73 gene

A 13-yr-old boy who complained of persistent nausea, vomiting and weight loss had hypercalcemia and an elevated intact PTH level. Computed tomography confirmed two tumors in the thyroid gland. The tumors were surgically removed and pathologically confirmed as parathyroid adenoma. Because his materna...

Descripción completa

Detalles Bibliográficos
Autores principales: Takeuchi, Takako, Yoto, Yuko, Tsugawa, Takeshi, Kamasaki, Hotaka, Kondo, Atsushi, Ogino, Jiro, Hasegawa, Tadashi, Yama, Naoya, Anan, Sawa, Uchino, Shinya, Ishikawa, Aki, Sakurai, Akihiro, Tsutsumi, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628953/
https://www.ncbi.nlm.nih.gov/pubmed/26568659
http://dx.doi.org/10.1297/cpe.24.185